ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691214
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54566
ClinVar RCV Id:
RCV000111855
RCV001015490
RCV001346971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala760Glu
CA001614
NM_007297.4:c.2279C>A